Canonical Allele Identifier: CA340817107

Gene: ACADM

Linked Data

• dbSNP Id: rs875989855
• MyVariant Identifiers: chr1:g.76216193G>T (hg19) ; chr1:g.75750508G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75750508G>T , CM000663.2:g.75750508G>T	GRCh38
NC_000001.10:g.76216193G>T , CM000663.1:g.76216193G>T	GRCh37
NC_000001.9:g.75988781G>T	NCBI36
NG_007045.2:g.31151G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.907G>T MANE Select	ENSP00000359878.5:p.Ala303Ser
ENST00000473018.3:n.3031G>T
ENST00000532207.6:n.1796G>T
ENST00000541113.6:c.849+949G>T	ENSP00000442324.2:n.849+949G>T
ENST00000679509.1:n.1869G>T
ENST00000679530.1:c.*675G>T	ENSP00000506454.1:n.*675G>T
ENST00000679615.1:n.2922G>T
ENST00000679687.1:c.469G>T	ENSP00000506598.1:p.Ala157Ser
ENST00000679704.1:c.*673G>T	ENSP00000505117.1:n.*673G>T
ENST00000679709.1:c.*870G>T	ENSP00000506623.1:n.*870G>T
ENST00000679976.1:c.*491G>T	ENSP00000505565.1:n.*491G>T
ENST00000680166.1:n.4196G>T
ENST00000680315.1:n.790G>T
ENST00000680517.1:c.*295G>T	ENSP00000505803.1:n.*295G>T
ENST00000680582.1:n.1869G>T
ENST00000680613.1:c.*278G>T	ENSP00000506114.1:n.*278G>T
ENST00000680662.1:c.*821G>T	ENSP00000505080.1:n.*821G>T
ENST00000680691.1:c.*570G>T	ENSP00000506487.1:n.*570G>T
ENST00000680694.1:c.*495G>T	ENSP00000505658.1:n.*495G>T
ENST00000680743.1:c.*574G>T	ENSP00000505073.1:n.*574G>T
ENST00000680749.1:c.*192G>T	ENSP00000505122.1:n.*192G>T
ENST00000680798.1:c.*382G>T	ENSP00000505670.1:n.*382G>T
ENST00000680805.1:c.766G>T	ENSP00000505447.1:p.Ala256Ser
ENST00000680844.1:c.*691G>T	ENSP00000506541.1:n.*691G>T
ENST00000680948.1:c.*774G>T	ENSP00000505441.1:n.*774G>T
ENST00000680964.1:c.907G>T	ENSP00000505961.1:p.Ala303Ser
ENST00000681037.1:c.*2391G>T	ENSP00000506025.1:n.*2391G>T
ENST00000681063.1:c.*54G>T	ENSP00000506616.1:n.*54G>T
ENST00000681209.1:c.*562G>T	ENSP00000505877.1:n.*562G>T
ENST00000681278.1:n.1264G>T
ENST00000681289.1:n.4902G>T
ENST00000681361.1:c.*574G>T	ENSP00000506679.1:n.*574G>T
ENST00000681430.1:c.907G>T	ENSP00000506301.1:p.Ala303Ser
ENST00000681446.1:c.*489G>T	ENSP00000506244.1:n.*489G>T
ENST00000681450.1:c.*578G>T	ENSP00000505660.1:n.*578G>T
ENST00000681548.1:c.*493G>T	ENSP00000505275.1:n.*493G>T
ENST00000681616.1:c.*566G>T	ENSP00000505111.1:n.*566G>T
ENST00000681621.1:c.*491G>T	ENSP00000505770.1:n.*491G>T
ENST00000681680.1:n.3002G>T
ENST00000681720.1:c.*362G>T	ENSP00000505438.1:n.*362G>T
ENST00000681730.1:n.1129G>T
ENST00000681790.1:c.649G>T	ENSP00000505130.1:p.Ala217Ser
ENST00000681837.1:n.1523G>T
ENST00000681913.1:n.3031G>T
ENST00000681916.1:c.*675G>T	ENSP00000506477.1:n.*675G>T
ENST00000681930.1:n.3031G>T
ENST00000370834.9:c.1006G>T	ENSP00000359871.5:p.Ala336Ser
ENST00000370841.8:c.907G>T	ENSP00000359878.4:p.Ala303Ser
ENST00000420607.6:c.919G>T	ENSP00000409612.2:p.Ala307Ser
ENST00000481374.1:n.58G>T
ENST00000525808.5:c.*493G>T	ENSP00000434823.1:n.*493G>T
ENST00000526129.5:c.*691G>T	ENSP00000434092.1:n.*691G>T
ENST00000526196.5:c.*675G>T	ENSP00000431953.1:n.*675G>T
ENST00000528016.1:c.121G>T	ENSP00000434284.1:p.Ala41Ser
ENST00000529059.5:n.816G>T
ENST00000532207.5:n.637G>T
ENST00000534334.5:c.*491G>T	ENSP00000435584.1:n.*491G>T
ENST00000541113.5:c.799G>T	ENSP00000442324.1:p.Ala267Ser
NM_000016.5:c.907G>T	NP_000007.1:p.Ala303Ser
NM_001127328.2:c.919G>T	NP_001120800.1:p.Ala307Ser
NM_001286042.1:c.799G>T	NP_001272971.1:p.Ala267Ser
NM_001286043.1:c.1006G>T	NP_001272972.1:p.Ala336Ser
NM_001286044.1:c.340G>T	NP_001272973.1:p.Ala114Ser
NM_000016.6:c.907G>T MANE Select	NP_000007.1:p.Ala303Ser
NM_001127328.3:c.919G>T	NP_001120800.1:p.Ala307Ser
NM_001286042.2:c.799G>T	NP_001272971.1:p.Ala267Ser
NM_001286043.2:c.1006G>T	NP_001272972.1:p.Ala336Ser
NM_001286044.2:c.340G>T	NP_001272973.1:p.Ala114Ser